Canonical Allele Identifier: CA2691925802

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540615-TGCATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540616_128540620del , CM000671.2:g.128540616_128540620del	GRCh38
NC_000009.11:g.131302895_131302899del , CM000671.1:g.131302895_131302899del	GRCh37
NC_000009.10:g.130342716_130342720del	NCBI36
NG_012073.1:g.40925_40929del , LRG_484:g.40925_40929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1099+278_*1099+282del	ENSP00000507095.1:n.*1099+278_*1099+282del
ENST00000683288.1:c.*2027+278_*2027+282del	ENSP00000507477.1:n.*2027+278_*2027+282del
ENST00000683748.1:c.2055+278_2055+282del	ENSP00000507377.1:n.2055+278_2055+282del
ENST00000683905.1:c.*704+278_*704+282del	ENSP00000506960.1:n.*704+278_*704+282del
ENST00000684139.1:c.1563+278_1563+282del	ENSP00000507295.1:n.1563+278_1563+282del
ENST00000684210.1:n.1741+278_1741+282del
ENST00000684314.1:c.1923+278_1923+282del	ENSP00000507700.1:n.1923+278_1923+282del
ENST00000684331.1:c.*263_*267del	ENSP00000507431.1:n.*263_*267del
ENST00000684463.1:n.666+278_666+282del
ENST00000684646.1:c.1815+278_1815+282del	ENSP00000507723.1:n.1815+278_1815+282del
ENST00000309971.9:c.2028+278_2028+282del MANE Select	ENSP00000308622.5:n.2028+278_2028+282del
ENST00000309971.8:c.2028+278_2028+282del	ENSP00000308622.4:n.2028+278_2028+282del
NM_001003722.1:c.2028+278_2028+282del , LRG_484t1:c.2028+278_2028+282del	NP_001003722.1:n.2028+278_2028+282del
XM_006717059.2:c.2064+278_2064+282del	XP_006717122.1:n.2064+278_2064+282del
XM_006717060.2:c.2037+278_2037+282del	XP_006717123.1:n.2037+278_2037+282del
XM_011518549.1:c.2064+278_2064+282del	XP_011516851.1:n.2064+278_2064+282del
XM_011518550.1:c.2064+278_2064+282del	XP_011516852.1:n.2064+278_2064+282del
XM_011518551.1:c.2055+278_2055+282del	XP_011516853.1:n.2055+278_2055+282del
XM_011518552.1:c.1305+278_1305+282del	XP_011516854.1:n.1305+278_1305+282del
XR_242681.3:n.100+2759_100+2763del
XR_428600.2:n.124+350_124+354del
XM_006717059.3:c.2064+278_2064+282del	XP_006717122.1:n.2064+278_2064+282del
XM_006717060.3:c.2037+278_2037+282del	XP_006717123.1:n.2037+278_2037+282del
XM_011518551.2:c.2055+278_2055+282del	XP_011516853.1:n.2055+278_2055+282del
XM_024447519.1:c.2037+278_2037+282del	XP_024303287.1:n.2037+278_2037+282del
XR_428600.3:n.126+350_126+354del
NM_001003722.2:c.2028+278_2028+282del MANE Select	NP_001003722.1:n.2028+278_2028+282del